Results 81 to 90 of about 818 (145)

Astrocyte-specific deletion of LRRC8A causes neurological dysfunction but not chronic white matter edema

Neurobiology of Disease
Volume-regulated anion channels (VRACs) are central to cell volume homeostasis. They mediate swelling-induced efflux of chloride and organic osmolytes to drive regulatory volume decrease.
Sven Kerst, Leoni Hoogterp, Marjolein Breur, Gemma M. van Rooijen-van Leeuwen, Marianna Bugiani, Rajan Sah, Huibert D. Mansvelder, Marjo S. van der Knaap, Rogier Min   +8 more
doaj   +1 more source

Diagnosing and Managing Pelizaeus‐Merzbacher Disease: A Pediatric Struggle

Clinical Case Reports
Prompt diagnosis of rare genetic conditions like Pelizaeus‐Merzbacher Disease enables timely care. Coordinated, multidisciplinary support and proactive prevention, particularly of issues like aspiration pneumonia, are vital to enhancing quality of life ...
Sajjad Ahmed Khan, Naphibanroi Lamar, Ishan Shrestha, Sagar Bhagat   +3 more
doaj   +1 more source

The Leukodystrophies [PDF]

Proceedings of the Royal Society of Medicine, 1975
openaire   +2 more sources

Metachromatic Leukodystrophy Presenting with Multiple Cranial Nerve and Lumbosacral Nerve Root Enhancement Without White Matter Changes

Neurology International
Background: Metachromatic leukodystrophy (MLD) is a rare autosomal recessive disorder that causes demyelination of both the central (CNS) and peripheral nervous systems (PNS). Objective: This study aims to report a unique MLD case presenting with cranial
Ruben Jauregui, Mekka R. Garcia, Thomas Mehuron, Steven L. Galetta, Devorah Segal   +4 more
doaj   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Editorial: White matter dementia: neuropathological and neuropsychological underpinnings and state of the art diagnosis methods and treatments

Frontiers in Neurology, 2023
Christopher M. Filley, Iris-Katharina Penner, Lisa Schäfer, Wolfgang Köhler   +3 more
doaj   +1 more source

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Late Breaking Abstracts

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Leukodystrophies

, 2008
Frank Gaillard, Rohit Sharma, Tariq Walizai   +2 more
openaire   +2 more sources

Pathology of leukodystrophies in childhood

Brain and Development, 1987
openaire   +2 more sources